POGZ Gene Variants Studied in Children with Non-Syndromic Autism Spectrum Disorder
Researchers sequenced the exonic regions of the POGZ gene in 51 children diagnosed with non-syndromic autism spectrum disorder (ASD) and 50 healthy controls using Next Generation Sequencing. While no clearly pathogenic variants were found, four specific single nucleotide polymorphisms (SNPs) — located in functional domains of the POGZ protein important for fetal brain development — were statistically more common in the ASD group. The authors suggest these variants may act as modifying or predisposing factors in ASD, though further research is needed to confirm their functional impact.









